Variant report

Variant	rs2687554
Chromosome Location	chr8:34639177-34639178
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:34638959-34639267	MCF10A-Er-Src	breast:	n/a	chr8:34639130-34639139 chr8:34639129-34639138
2	FOS	chr8:34638880-34639292	HUVEC	blood vessel:	n/a	chr8:34639129-34639138 chr8:34639130-34639137 chr8:34639128-34639140 chr8:34639133-34639140 chr8:34639060-34639068 chr8:34639128-34639139 chr8:34639061-34639068 chr8:34639130-34639138
3	FOS	chr8:34638876-34639427	MCF10A-Er-Src	breast:	n/a	chr8:34639129-34639138 chr8:34639130-34639137 chr8:34639128-34639140 chr8:34639133-34639140 chr8:34639060-34639068 chr8:34639128-34639139 chr8:34639061-34639068 chr8:34639130-34639138
4	STAT3	chr8:34638910-34639288	MCF10A-Er-Src	breast:	n/a	chr8:34639130-34639139 chr8:34639129-34639138
5	FOS	chr8:34638921-34639324	MCF10A-Er-Src	breast:	n/a	chr8:34639129-34639138 chr8:34639130-34639137 chr8:34639128-34639140 chr8:34639133-34639140 chr8:34639060-34639068 chr8:34639128-34639139 chr8:34639061-34639068 chr8:34639130-34639138
6	JUND	chr8:34639001-34639251	HepG2	liver:	n/a	chr8:34639129-34639138 chr8:34639130-34639137 chr8:34639128-34639140 chr8:34639133-34639140 chr8:34639060-34639068 chr8:34639061-34639068 chr8:34639128-34639139 chr8:34639130-34639138
7	FOS	chr8:34638928-34639320	MCF10A-Er-Src	breast:	n/a	chr8:34639129-34639138 chr8:34639130-34639137 chr8:34639128-34639140 chr8:34639133-34639140 chr8:34639060-34639068 chr8:34639128-34639139 chr8:34639061-34639068 chr8:34639130-34639138
8	E2F4	chr8:34638981-34639338	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr8:34638964-34639246	MCF10A-Er-Src	breast:	n/a	chr8:34639130-34639139 chr8:34639129-34639138
10	FOS	chr8:34638881-34639381	MCF10A-Er-Src	breast:	n/a	chr8:34639129-34639138 chr8:34639130-34639137 chr8:34639128-34639140 chr8:34639133-34639140 chr8:34639060-34639068 chr8:34639128-34639139 chr8:34639061-34639068 chr8:34639130-34639138
11	MYC	chr8:34638980-34639419	MCF10A-Er-Src	breast:	n/a	chr8:34639130-34639139
12	CEBPB	chr8:34638946-34639265	Hela-S3	cervix:	n/a	n/a
13	MYC	chr8:34638916-34639259	MCF10A-Er-Src	breast:	n/a	chr8:34639130-34639139

Variant related genes	Relation type
ENSG00000254344	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10093005	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10110457	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10283194	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11988462	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11995347	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12114068	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1317084	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13254921	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261872	0.85[AMR][1000 genomes]
rs13262347	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13263701	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13264659	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13268340	0.84[AMR][1000 genomes]
rs1403375	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1403377	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522844	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1522849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522853	0.84[ASN][1000 genomes]
rs1608233	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16915	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1807927	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1916170	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1916172	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916173	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916175	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916176	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1949719	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1949721	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254811	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2254888	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2256710	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257117	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2257183	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685590	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2685591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2685593	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685594	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685595	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685596	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2685600	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2685602	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685603	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685604	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685605	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2685609	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2685610	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687543	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687544	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687545	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687546	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687548	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687549	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687557	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538456	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35383581	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57209233	0.84[ASN][1000 genomes]
rs6468286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468288	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468289	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005808	0.81[AMR][1000 genomes]
rs7007425	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816776	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7822537	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7837402	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7843303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845916	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831283	chr8:34501243-34662634	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv890715	chr8:34568015-34700530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465635	chr8:34631970-34710118	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv610932	chr8:34631970-34710118	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3693375	chr8:34631970-34780509	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34638600-34639200	Enhancers	HUVEC	blood vessel
2	chr8:34638600-34640200	Enhancers	HMEC	breast
3	chr8:34638800-34639400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:34638800-34640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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